{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA129039",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 52,
          "referenceAllele": "P",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "NP_000095.2:p.Pro52Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129038",
          "hgvs": "NM_000104.4:c.155C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146656"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39180[alleleid]",
        "alleleId": 39180,
        "preferredName": "NM_000104.4(CYP1B1):c.155C>T (p.Pro52Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30224",
        "RCV": [
          "RCV000023148",
          "RCV000349391",
          "RCV001139674",
          "RCV001139675",
          "RCV003155038"
        ],
        "variationId": 30224
      }
    ]
  },
  "type": "amino-acid"
}